Nature Search

Unlocking the potential of FinnGen to advance cancer research

Large biobank projects such as FinnGen have enabled systematic searches for inherited factors that causally influence a wide range of human traits, including cancer risk and outcome. These explorations provide genetic insights for various aspects of cancer research, including improved risk prediction, enhanced biomarker and drug target discovery, and personalized medicine.

Mervi Aavikko
Aoxing Liu
Mark Daly
Comments & Opinion16 Oct 2025
Nature Reviews Cancer

P: 1-3
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

The burden of mosaic chromosomal alterations in blood-derived DNA, a type of clonal hematopoiesis, is associated with an increased risk for diverse types of infections, including sepsis and pneumonia.

Seyedeh M. Zekavat
Shu-Hong Lin
Pradeep Natarajan
Research07 Jun 2021
Nature Medicine

Volume: 27, P: 1012-1024
Genetic drivers and cellular selection of female mosaic X chromosome loss

A large-scale meta-analysis across eight biobank datasets identifies common genetic variants associated with mosaic loss of the X chromosome in female participants.

Aoxing Liu
Giulio Genovese
Mitchell J. Machiela
Research12 Jun 2024
Nature

Volume: 631, P: 134-141
A mitotic NADPH upsurge promotes chromosome segregation and tumour progression in aneuploid cancer cells

In aneuploid cancer cells with high ROS levels, a mitotic NADPH upsurge is required for error-free mitosis and tumour progression and therefore constitutes a cell cycle-dependent metabolic vulnerability.

Aoxing Cheng
Tian Xu
Zhenye Yang
Research22 Jun 2023
Nature Metabolism

Volume: 5, P: 1141-1158
Evidence from Finland and Sweden on the relationship between early-life diseases and lifetime childlessness in men and women

The authors present a comprehensive analysis of the associations between childlessness and individual diseases in Finland and Sweden.

Aoxing Liu
Evelina T. Akimova
Andrea Ganna
ResearchOpen Access18 Dec 2023
Nature Human Behaviour

Volume: 8, P: 276-287
Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions

A multi-ancestry genome-wide association meta-analysis of kidney cancer identifies 63 regions associated with disease susceptibility including one locus that was associated with increased risk in individuals with African ancestry.

Mark P. Purdue
Diptavo Dutta
Stephen J. Chanock
Research26 Apr 2024
Nature Genetics

Volume: 56, P: 809-818
Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty

To better understand the etiology of frailty, the authors perform a large genetic study. They identified 45 additional variants and implicated MET, CHST9, ILRUN, APOE, CGREF1 and PPP6C as potential causal genes, linking frailty to immune regulation, metabolism and cellular signaling.

Jonathan K. L. Mak
Chenxi Qin
Juulia Jylhävä
ResearchOpen Access05 Aug 2025
Nature Aging

Volume: 5, P: 1589-1600
Author Correction: Genetic drivers and cellular selection of female mosaic X chromosome loss

Aoxing Liu
Giulio Genovese
Mitchell J. Machiela
Amendments and Corrections03 Dec 2024
Nature

Volume: 636, P: E7
Engineered Lactococcus lactis secreting Flt3L and OX40 ligand for in situ vaccination-based cancer immunotherapy

The probiotic Lactococcus lactis has been used for the delivery of therapeutic molecules. Here the authors engineer Lactococcus lactis to express a fusion protein of Flt3L and OX40 ligand, eliciting anti-tumor immune response in preclinical cancer models.

Junmeng Zhu
Yaohua Ke
Baorui Liu
ResearchOpen Access03 Dec 2022
Nature Communications

Volume: 13, P: 1-18
FinnGen provides genetic insights from a well-phenotyped isolated population

Genome-wide association studies of individuals from an isolated population (data from the Finnish biobank study FinnGen) and consequent meta-analyses facilitate the identification of previously unknown coding variant associations for both rare and common diseases.

Mitja I. Kurki
Juha Karjalainen
Aarno Palotie
ResearchOpen Access18 Jan 2023
Nature

Volume: 613, P: 508-518
Imputation for sequencing variants preselected to a customized low-density chip

Aoxing Liu
Mogens Sandø Lund
Guosheng Su
ResearchOpen Access12 Jun 2020
Scientific Reports

Volume: 10, P: 1-9
Genome-wide association mapping for dominance effects in female fertility using real and simulated data from Danish Holstein cattle

Xiaowei Mao
Goutam Sahana
Bernt Guldbrandtsen
ResearchOpen Access19 Feb 2020
Scientific Reports

Volume: 10, P: 1-9
Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations

A genome-wide association study suggests 41 previously unreported loci on top of the 23 known loci that influence the disease risk for lumbar disc herniations. Many of these loci harbour genes implicated in disc structure and inflammation, as well as genes related to the nervous system and nerve function.

Ville Salo
Juhani Määttä
Johannes Kettunen
ResearchOpen Access07 Nov 2024
Nature Communications

Volume: 15, P: 1-14
Automated segmentation of brain metastases in magnetic resonance imaging using deep learning in radiotherapy

Ruiping Zhang
Yinglong Liu
Peng Peng
ResearchOpen Access25 Sept 2025
Scientific Reports

Volume: 15, P: 1-11
Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population

Mitja I. Kurki
Juha Karjalainen
Aarno Palotie
Amendments and CorrectionsOpen Access24 Feb 2023
Nature

Volume: 615, P: E19
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

Narcolepsy has genetic and environmental risk factors, but the specific genetic risk loci and interaction with environmental triggers are not well understood. Here, the authors identify genetic loci for narcolepsy, suggesting infection as a trigger and dendritic and helper T cell involvement.

Hanna M. Ollila
Eilon Sharon
Emmanuel J. Mignot
ResearchOpen Access15 May 2023
Nature Communications

Volume: 14, P: 1-13
Deep learning-based prediction of one-year mortality in Finland is an accurate but unfair aging marker

Here the authors show that deep learning accurately predicts one-year mortality using nationwide Finnish data. Despite robust performance and potential as an aging marker, fairness analyses reveal prediction disparities, urging cautious integration into public health.

Andrius Vabalas
Tuomo Hartonen
Andrea Ganna
ResearchOpen Access24 Jun 2024
Nature Aging

Volume: 4, P: 1014-1027
Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

Many genetic factors that contribute to uterine leiomyomata (UL) - the most common tumours of the female genital tract - remain to be discovered. Here, the authors conduct a UL meta-genome-wide association study, and find loci related to altered muscle tissue biology that are associated with UL.

Eeva Sliz
Jaakko S. Tyrmi
Johannes Kettunen
ResearchOpen Access01 Feb 2023
Nature Communications

Volume: 14, P: 1-14
Genome-wide Association Studies for Female Fertility Traits in Chinese and Nordic Holsteins

Aoxing Liu
Yachun Wang
Guosheng Su
ResearchOpen Access16 Aug 2017
Scientific Reports

Volume: 7, P: 1-12
Genotype-by-environment interaction of fertility traits in Danish Holstein cattle using a single-step genomic reaction norm model

Zhe Zhang
Morten Kargo
Guosheng Su
ResearchOpen Access13 Feb 2019
Heredity

Volume: 123, P: 202-214
Improvement of genomic prediction by integrating additional single nucleotide polymorphisms selected from imputed whole genome sequencing data

Aoxing Liu
Mogens Sandø Lund
Guosheng Su
ResearchOpen Access05 Jul 2019
Heredity

Volume: 124, P: 37-49
SNRPB promotes the tumorigenic potential of NSCLC in part by regulating RAB26

Nianli Liu
Zhiyuan Wu
Longzhen Zhang
ResearchOpen Access11 Sept 2019
Cell Death & Disease

Volume: 10, P: 1-11
Narcolepsy as a potential risk factor for Schizophrenia

Reyhane Eghtedarian
Anniina M. Tervi
Hanna M. Ollila
ResearchOpen Access17 Feb 2025
Translational Psychiatry

Volume: 15, P: 1-10
Novel loci and biomedical consequences of iron homoeostasis variation

The largest meta-analysis of GWASs of hepcidin and sTfR identified 43 genomic loci, of which 15 new. Mendelian randomisation revealed associations of systemic iron status and iron-related loci with selected health outcomes across multiple domains.

Elias Allara
Steven Bell
Emanuele Di Angelantonio
ResearchOpen Access06 Dec 2024
Communications Biology

Volume: 7, P: 1-17
Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis

A genome-wide association study identifies MFGE8 as protective against coronary atherosclerosis in European and East Asian populations.

Sanni E. Ruotsalainen
Ida Surakka
Samuli Ripatti
ResearchOpen Access17 Aug 2022
Communications Biology

Volume: 5, P: 1-16
Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes

Max Tamlander et al. combine polygenic risk scores and clinical assessments to improve prediction of coronary artery disease and type 2 diabetes in European cohorts. Taken together, their results provide a useful method for preliminary cardiometabolic risk assessment in patients.

Max Tamlander
Nina Mars
Samuli Ripatti
ResearchOpen Access23 Feb 2022
Communications Biology

Volume: 5, P: 1-13
NTHL1 is a recessive cancer susceptibility gene

Anna K. Nurmi
Liisa M. Pelttari
Heli Nevanlinna
ResearchOpen Access30 Nov 2023
Scientific Reports

Volume: 13, P: 1-14
A FinnGen pilot clinical recall study for Alzheimer’s disease

Valtteri Julkunen
Claudia Schwarz
Heiko Runz
ResearchOpen Access03 Aug 2023
Scientific Reports

Volume: 13, P: 1-15

Search

Unlocking the potential of FinnGen to advance cancer research

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Genetic drivers and cellular selection of female mosaic X chromosome loss

A mitotic NADPH upsurge promotes chromosome segregation and tumour progression in aneuploid cancer cells

Evidence from Finland and Sweden on the relationship between early-life diseases and lifetime childlessness in men and women

Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty

Author Correction: Genetic drivers and cellular selection of female mosaic X chromosome loss

Engineered Lactococcus lactis secreting Flt3L and OX40 ligand for in situ vaccination-based cancer immunotherapy

FinnGen provides genetic insights from a well-phenotyped isolated population

Imputation for sequencing variants preselected to a customized low-density chip

Genome-wide association mapping for dominance effects in female fertility using real and simulated data from Danish Holstein cattle

Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations

Automated segmentation of brain metastases in magnetic resonance imaging using deep learning in radiotherapy

Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population

Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

Deep learning-based prediction of one-year mortality in Finland is an accurate but unfair aging marker

Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

Genome-wide Association Studies for Female Fertility Traits in Chinese and Nordic Holsteins

Genotype-by-environment interaction of fertility traits in Danish Holstein cattle using a single-step genomic reaction norm model

Improvement of genomic prediction by integrating additional single nucleotide polymorphisms selected from imputed whole genome sequencing data

SNRPB promotes the tumorigenic potential of NSCLC in part by regulating RAB26

Narcolepsy as a potential risk factor for Schizophrenia

Novel loci and biomedical consequences of iron homoeostasis variation

Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis

Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes

NTHL1 is a recessive cancer susceptibility gene

A FinnGen pilot clinical recall study for Alzheimer’s disease

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